Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:45918563..45921114-chr4:78111513..78114166,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17002421	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17002448	1.00[EUR][1000 genomes]
rs17002449	1.00[EUR][1000 genomes]
rs17002454	1.00[EUR][1000 genomes]
rs17002456	1.00[EUR][1000 genomes]
rs2015393	1.00[EUR][1000 genomes]
rs2161355	0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28669186	1.00[EUR][1000 genomes]
rs56752313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60329200	1.00[EUR][1000 genomes]
rs6811629	1.00[EUR][1000 genomes]
rs6812471	1.00[EUR][1000 genomes]
rs6817538	1.00[EUR][1000 genomes]
rs6820366	1.00[EUR][1000 genomes]
rs6829872	1.00[EUR][1000 genomes]
rs6840204	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854976	1.00[EUR][1000 genomes]
rs72863245	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72863263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863275	1.00[EUR][1000 genomes]
rs72863276	1.00[EUR][1000 genomes]
rs72863279	1.00[EUR][1000 genomes]
rs72863282	1.00[EUR][1000 genomes]
rs72863284	1.00[EUR][1000 genomes]
rs72863287	1.00[EUR][1000 genomes]
rs7697954	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1000730	chr4:78109138-78210296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78094400-78114200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:78109000-78114200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:78109000-78114200	Weak transcription	Fetal Thymus	thymus
4	chr4:78109000-78114400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:78110400-78114200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:78110400-78114200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:78112000-78114200	Weak transcription	Placenta	Placenta
8	chr4:78112000-78114800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:78112000-78116200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:78112000-78117400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:78112000-78120600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:78112200-78120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:78113600-78118600	Weak transcription	NHEK	skin
14	chr4:78113600-78120400	Weak transcription	HMEC	breast
15	chr4:78113800-78114400	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:78113800-78120400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:78114000-78114200	Enhancers	GM12878-XiMat	blood
18	chr4:78114000-78114600	Enhancers	Thymus	Thymus

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